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TOPLINE:
Mobile images may be reliable for assessing cutaneous neurofibroma (cNF) features in patients with neurofibromatosis type 1 (NF1), according to a crowd-sourced .
METHODOLOGY:
- To learn more about the association of cNFs with QoL, pain, and itch in patients with this rare disease, researchers enrolled 1016 individuals aged 40 years and older with NF1 who had at least one cNF, from May 2021 to December 2023, after reaching out to patient-led or NF1 advocacy organizations in 13 countries, including the United States.
- Participants provided demographic data, detailed photographs, and saliva samples for genetic sequencing, with 583 participants (mean age, 51.7 years; 65.9% women) submitting high-quality photographs from seven body regions at the time of the study analysis.
- A subset of 50 participants also underwent whole-body imaging.
- Four researchers independently rated the photographs for various cNF features, including general severity, number, size, facial severity, and subtypes.
TAKEAWAY:
- Based on evaluations by NF1 specialists, the agreement between mobile and whole-body images was “substantial” (74%-88% agreement) for the number of cNFs, general severity, and facial severity. Agreement between self-reported numbers of cNFs and investigator-rated numbers based on photographs was “minimal to fair.”
- Female sex, the number of cNFs, severity of cNFs on the face, and globular cNFs were associated with worse QoL (based on Skindex scores); severity of cNFs on the face had the strongest impact on overall QoL (P < .001).
- An increasing number of cNFs and worsening facial severity were strongly correlated with higher emotion subdomain scores.
- A higher number of cNFs, more severe cNFs on the face, and larger cNFs were all slightly associated with increased itch and pain (P < .01).
IN PRACTICE:
“To develop effective therapeutics, meaningful clinical outcomes that are tied with improvement in QoL for persons with NF1 must be clearly defined,” the authors wrote. The results of this study, they added, “suggested the benefit of this crowd-sourced resource by identifying the features of cNFs with the greatest association with QoL and symptoms of pain and itch in persons with NF1, highlighting new intervention strategies and features to target to most improve QoL in NF1.”
SOURCE:
The study was led by Michelle Jade Lin, BS, Stanford University School of Medicine, Redwood City, California, and was published online in JAMA Dermatology.
LIMITATIONS:
The study included only a small number of individuals from racial and ethnic minority groups and did not capture ethnicity information, which could have provided further insights into disease impact across different demographics.
DISCLOSURES:
This study was supported by Johns Hopkins University, Baltimore, and the Bloomberg Family Foundation. Ms. Lin reported support from the Stanford Medical Scholars Research Program. Three authors reported personal fees or grants outside this work. Other authors reported no competing interests.
This article was created using several editorial tools, including AI, as part of the process. Human editors reviewed this content before publication. A version of this article first appeared on Medscape.com.
TOPLINE:
Mobile images may be reliable for assessing cutaneous neurofibroma (cNF) features in patients with neurofibromatosis type 1 (NF1), according to a crowd-sourced .
METHODOLOGY:
- To learn more about the association of cNFs with QoL, pain, and itch in patients with this rare disease, researchers enrolled 1016 individuals aged 40 years and older with NF1 who had at least one cNF, from May 2021 to December 2023, after reaching out to patient-led or NF1 advocacy organizations in 13 countries, including the United States.
- Participants provided demographic data, detailed photographs, and saliva samples for genetic sequencing, with 583 participants (mean age, 51.7 years; 65.9% women) submitting high-quality photographs from seven body regions at the time of the study analysis.
- A subset of 50 participants also underwent whole-body imaging.
- Four researchers independently rated the photographs for various cNF features, including general severity, number, size, facial severity, and subtypes.
TAKEAWAY:
- Based on evaluations by NF1 specialists, the agreement between mobile and whole-body images was “substantial” (74%-88% agreement) for the number of cNFs, general severity, and facial severity. Agreement between self-reported numbers of cNFs and investigator-rated numbers based on photographs was “minimal to fair.”
- Female sex, the number of cNFs, severity of cNFs on the face, and globular cNFs were associated with worse QoL (based on Skindex scores); severity of cNFs on the face had the strongest impact on overall QoL (P < .001).
- An increasing number of cNFs and worsening facial severity were strongly correlated with higher emotion subdomain scores.
- A higher number of cNFs, more severe cNFs on the face, and larger cNFs were all slightly associated with increased itch and pain (P < .01).
IN PRACTICE:
“To develop effective therapeutics, meaningful clinical outcomes that are tied with improvement in QoL for persons with NF1 must be clearly defined,” the authors wrote. The results of this study, they added, “suggested the benefit of this crowd-sourced resource by identifying the features of cNFs with the greatest association with QoL and symptoms of pain and itch in persons with NF1, highlighting new intervention strategies and features to target to most improve QoL in NF1.”
SOURCE:
The study was led by Michelle Jade Lin, BS, Stanford University School of Medicine, Redwood City, California, and was published online in JAMA Dermatology.
LIMITATIONS:
The study included only a small number of individuals from racial and ethnic minority groups and did not capture ethnicity information, which could have provided further insights into disease impact across different demographics.
DISCLOSURES:
This study was supported by Johns Hopkins University, Baltimore, and the Bloomberg Family Foundation. Ms. Lin reported support from the Stanford Medical Scholars Research Program. Three authors reported personal fees or grants outside this work. Other authors reported no competing interests.
This article was created using several editorial tools, including AI, as part of the process. Human editors reviewed this content before publication. A version of this article first appeared on Medscape.com.
TOPLINE:
Mobile images may be reliable for assessing cutaneous neurofibroma (cNF) features in patients with neurofibromatosis type 1 (NF1), according to a crowd-sourced .
METHODOLOGY:
- To learn more about the association of cNFs with QoL, pain, and itch in patients with this rare disease, researchers enrolled 1016 individuals aged 40 years and older with NF1 who had at least one cNF, from May 2021 to December 2023, after reaching out to patient-led or NF1 advocacy organizations in 13 countries, including the United States.
- Participants provided demographic data, detailed photographs, and saliva samples for genetic sequencing, with 583 participants (mean age, 51.7 years; 65.9% women) submitting high-quality photographs from seven body regions at the time of the study analysis.
- A subset of 50 participants also underwent whole-body imaging.
- Four researchers independently rated the photographs for various cNF features, including general severity, number, size, facial severity, and subtypes.
TAKEAWAY:
- Based on evaluations by NF1 specialists, the agreement between mobile and whole-body images was “substantial” (74%-88% agreement) for the number of cNFs, general severity, and facial severity. Agreement between self-reported numbers of cNFs and investigator-rated numbers based on photographs was “minimal to fair.”
- Female sex, the number of cNFs, severity of cNFs on the face, and globular cNFs were associated with worse QoL (based on Skindex scores); severity of cNFs on the face had the strongest impact on overall QoL (P < .001).
- An increasing number of cNFs and worsening facial severity were strongly correlated with higher emotion subdomain scores.
- A higher number of cNFs, more severe cNFs on the face, and larger cNFs were all slightly associated with increased itch and pain (P < .01).
IN PRACTICE:
“To develop effective therapeutics, meaningful clinical outcomes that are tied with improvement in QoL for persons with NF1 must be clearly defined,” the authors wrote. The results of this study, they added, “suggested the benefit of this crowd-sourced resource by identifying the features of cNFs with the greatest association with QoL and symptoms of pain and itch in persons with NF1, highlighting new intervention strategies and features to target to most improve QoL in NF1.”
SOURCE:
The study was led by Michelle Jade Lin, BS, Stanford University School of Medicine, Redwood City, California, and was published online in JAMA Dermatology.
LIMITATIONS:
The study included only a small number of individuals from racial and ethnic minority groups and did not capture ethnicity information, which could have provided further insights into disease impact across different demographics.
DISCLOSURES:
This study was supported by Johns Hopkins University, Baltimore, and the Bloomberg Family Foundation. Ms. Lin reported support from the Stanford Medical Scholars Research Program. Three authors reported personal fees or grants outside this work. Other authors reported no competing interests.
This article was created using several editorial tools, including AI, as part of the process. Human editors reviewed this content before publication. A version of this article first appeared on Medscape.com.